cblC mmachc hg13 zebrafish mutant
The germline cblC mutant hg13 shows elevated methylmalonic acid, retinopathy, juvenile mortality and craniofacial defects responsive to metabolic intervention.
Model identity
- Model name
- cblC mmachc hg13 zebrafish mutant
- Species
- zebrafish
- Genotype / zygosity
- mmachc hg13
- Allele
- hg13
Biological characteristics
- Research questions
- Which zebrafish models reproduce cblC-type combined methylmalonic acidemia and homocystinuria.
- Limitations
- Phenotype severity depends on the hg13 allele; developmental timing differs from mouse and human cblC disease.